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Aliases for GSDMD Gene

Aliases for GSDMD Gene

  • Gasdermin D 2 3 5
  • Gasdermin Domain-Containing Protein 1 3 4
  • Gasdermin Domain Containing 1 2 3
  • GSDMDC1 3 4
  • DFNA5L 3 4
  • FKSG10 3
  • DF5L 3

External Ids for GSDMD Gene

Previous HGNC Symbols for GSDMD Gene

  • GSDMDC1

Previous GeneCards Identifiers for GSDMD Gene

  • GC08P144712
  • GC08P144640
  • GC08P139886
  • GC08P144641

Summaries for GSDMD Gene

Entrez Gene Summary for GSDMD Gene

  • Gasdermin D is a member of the gasdermin family. Members of this family appear to play a role in regulation of epithelial proliferation. Gasdermin D has been suggested to act as a tumor suppressor. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]

GeneCards Summary for GSDMD Gene

GSDMD (Gasdermin D) is a Protein Coding gene. An important paralog of this gene is GSDMC.

UniProtKB/Swiss-Prot for GSDMD Gene

  • Component of inflammasomes responsible for the execution of pyroptosis and the release of mature IL1B. In response to canonical, as well as non-canonical(such as cytosolic LPS) inflammasome activators, undergoes cleavage by inflammatory caspases CASP1 and CASP4, respectively. The released N-terminal moiety promotes pyroptosis and release of mature IL1B.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GSDMD Gene

Genomics for GSDMD Gene

Regulatory Elements for GSDMD Gene

Enhancers for GSDMD Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GSDMD on UCSC Golden Path with GeneCards custom track

Promoters for GSDMD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GSDMD on UCSC Golden Path with GeneCards custom track

Genomic Location for GSDMD Gene

Chromosome:
8
Start:
143,553,207 bp from pter
End:
143,563,062 bp from pter
Size:
9,856 bases
Orientation:
Plus strand

Genomic View for GSDMD Gene

Genes around GSDMD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GSDMD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GSDMD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GSDMD Gene

Proteins for GSDMD Gene

  • Protein details for GSDMD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P57764-GSDMD_HUMAN
    Recommended name:
    Gasdermin-D
    Protein Accession:
    P57764
    Secondary Accessions:
    • A8K702
    • D3DWJ9
    • Q96Q98

    Protein attributes for GSDMD Gene

    Size:
    484 amino acids
    Molecular mass:
    52801 Da
    Quaternary structure:
    • In response to a canonical inflammasome stimulus, such as nigericin, recruited to NLRP3 inflammasone with similar kinetics to that of proCASP1. Although this recruitment is also observed in the absence of PYCARD, it is more efficient in its presence of PYCARD.

neXtProt entry for GSDMD Gene

Proteomics data for GSDMD Gene at MOPED

Post-translational modifications for GSDMD Gene

  • Cleavage at Asp-275 by CASP1 (mature and uncleaved precursor forms) or CASP4 relieves autoinhibition and is sufficient to initiate pyroptosis.
  • Ubiquitination at Lys 51
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GSDMD Gene

Domains & Families for GSDMD Gene

Protein Domains for GSDMD Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P57764

UniProtKB/Swiss-Prot:

GSDMD_HUMAN :
  • Intramolecular interactions between N- and C-terminal domains may be important for autoinhibition in the absence of cleavage by inflammatory caspases CASP1 or CASP4. The intrinsic pyroptosis-inducing activity is carried by the N-terminal domain that is released upon cleavage by inflammatory caspases.
  • Belongs to the gasdermin family.
Domain:
  • Intramolecular interactions between N- and C-terminal domains may be important for autoinhibition in the absence of cleavage by inflammatory caspases CASP1 or CASP4. The intrinsic pyroptosis-inducing activity is carried by the N-terminal domain that is released upon cleavage by inflammatory caspases.
Family:
  • Belongs to the gasdermin family.
genes like me logo Genes that share domains with GSDMD: view

No data available for Gene Families for GSDMD Gene

Function for GSDMD Gene

Molecular function for GSDMD Gene

UniProtKB/Swiss-Prot Function:
Component of inflammasomes responsible for the execution of pyroptosis and the release of mature IL1B. In response to canonical, as well as non-canonical(such as cytosolic LPS) inflammasome activators, undergoes cleavage by inflammatory caspases CASP1 and CASP4, respectively. The released N-terminal moiety promotes pyroptosis and release of mature IL1B.
genes like me logo Genes that share phenotypes with GSDMD: view

Animal Models for GSDMD Gene

MGI Knock Outs for GSDMD:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for GSDMD Gene

Localization for GSDMD Gene

Subcellular locations from UniProtKB/Swiss-Prot for GSDMD Gene

Inflammasome. Note=In response to a canonical inflammasome stimulus, such as nigericin, recruited to NLRP3 inflammasone with similar kinetics to that of proCASP1. {ECO:0000250 UniProtKB:Q9D8T2}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GSDMD Gene COMPARTMENTS Subcellular localization image for GSDMD gene
Compartment Confidence
cytosol 5
nucleus 5
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for GSDMD Gene

Pathways & Interactions for GSDMD Gene

SuperPathways for GSDMD Gene

No Data Available

Interacting Proteins for GSDMD Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000262580%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000347188%0d%0a
Selected Interacting proteins: ENSP00000262580 P57764-GSDMD_HUMAN for GSDMD Gene via STRING UniProtKB I2D

Gene Ontology (GO) - Biological Process for GSDMD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031668 cellular response to extracellular stimulus IEA --
GO:0050718 positive regulation of interleukin-1 beta secretion ISS --
genes like me logo Genes that share ontologies with GSDMD: view

No data available for Pathways by source and SIGNOR curated interactions for GSDMD Gene

Drugs & Compounds for GSDMD Gene

No Compound Related Data Available

Transcripts for GSDMD Gene

Unigene Clusters for GSDMD Gene

Gasdermin D:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GSDMD Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11a ·
SP1: - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - - - -
SP4: - - -
SP5:
SP6: - - - - - -
SP7: - - - -
SP8: - - -
SP9: - - -
SP10: - -
SP11: - -
SP12:
SP13:

ExUns: 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16a · 16b
SP1: - -
SP2: - -
SP3:
SP4:
SP5: - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for GSDMD Gene

GeneLoc Exon Structure for
GSDMD
ECgene alternative splicing isoforms for
GSDMD

Expression for GSDMD Gene

mRNA expression in normal human tissues for GSDMD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GSDMD Gene

This gene is overexpressed in Whole Blood (x4.6) and Spleen (x4.4).

Protein differential expression in normal tissues from HIPED for GSDMD Gene

This gene is overexpressed in Adrenal (18.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for GSDMD Gene



SOURCE GeneReport for Unigene cluster for GSDMD Gene Hs.118983

mRNA Expression by UniProt/SwissProt for GSDMD Gene

P57764-GSDMD_HUMAN
Tissue specificity: Expressed in the suprabasal cells of esophagus, as well as in the isthmus/neck, pit, and gland of the stomach, suggesting preferential expression in differentiating cells.
genes like me logo Genes that share expression patterns with GSDMD: view

Protein tissue co-expression partners for GSDMD Gene

- Elite partner

Primer Products

Orthologs for GSDMD Gene

This gene was present in the common ancestor of chordates.

Orthologs for GSDMD Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GSDMD 35
  • 75.45 (n)
  • 64.79 (a)
GSDMD 36
  • 63 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GSDMD 35
  • 75.75 (n)
  • 62.66 (a)
GSDMD 36
  • 61 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gsdmd 35
  • 69.95 (n)
  • 59.12 (a)
Gsdmd 16
Gsdmd 36
  • 57 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GSDMD 35
  • 98.48 (n)
  • 97.73 (a)
GSDMD 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gsdmd 35
  • 71.52 (n)
  • 61.36 (a)
oppossum
(Monodelphis domestica)
Mammalia GSDMD 36
  • 39 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 35 (a)
OneToMany
chicken
(Gallus gallus)
Aves GSDMA 36
  • 25 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 23 (a)
OneToMany
Species with no ortholog for GSDMD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for GSDMD Gene

ENSEMBL:
Gene Tree for GSDMD (if available)
TreeFam:
Gene Tree for GSDMD (if available)

Paralogs for GSDMD Gene

Paralogs for GSDMD Gene

(2) SIMAP similar genes for GSDMD Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with GSDMD: view

Variants for GSDMD Gene

Sequence variations from dbSNP and Humsavar for GSDMD Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs2290414 -- 143,561,433(-) GCTCT(C/T)GGCTC intron-variant
rs2305492 -- 143,559,200(-) CATCC(C/T)GGGAT intron-variant
rs7831485 -- 143,560,456(+) GGAGC(A/G)CACGG intron-variant, reference, synonymous-codon
rs7835865 -- 143,560,426(+) ACCTT(C/T)CCTCA intron-variant, reference, synonymous-codon
rs7840166 -- 143,559,143(+) ACACT(A/G)TAATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GSDMD Gene

Variant ID Type Subtype PubMed ID
nsv470247 CNV Loss 18288195
nsv891676 CNV Loss 21882294
dgv7924n71 CNV Loss 21882294
dgv7928n71 CNV Loss 21882294
dgv7930n71 CNV Loss 21882294
dgv7932n71 CNV Loss 21882294
dgv7933n71 CNV Loss 21882294
nsv891716 CNV Gain 21882294
nsv891720 CNV Loss 21882294
dgv7934n71 CNV Loss 21882294
nsv516210 CNV Loss 19592680
esv29963 CNV Loss 17803354
esv2659876 CNV Deletion 23128226
nsv470248 CNV Gain 18288195
nsv891722 CNV Loss 21882294
dgv7935n71 CNV Loss 21882294
nsv466000 CNV Loss 19166990
dgv7936n71 CNV Loss 21882294
dgv7937n71 CNV Loss 21882294
dgv1200n67 CNV Loss 20364138
esv4204 CNV Deletion 18987735
esv2738018 CNV Deletion 23290073
esv9611 CNV Loss 19470904
esv2665566 CNV Deletion 23128226
esv27296 CNV Loss 19812545
esv2738019 CNV Deletion 23290073
esv1175692 CNV Insertion 17803354
nsv824770 CNV Gain 20364138
nsv891733 CNV Loss 21882294
nsv891734 CNV Loss 21882294

Variation tolerance for GSDMD Gene

Residual Variation Intolerance Score: 88.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.28; 52.98% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for GSDMD Gene

Disorders for GSDMD Gene

Relevant External Links for GSDMD

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GSDMD

No disorders were found for GSDMD Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GSDMD Gene

Publications for GSDMD Gene

  1. Identification and characterization of human DFNA5L, mouse Dfna5l, and rat Dfna5l genes in silico. (PMID: 15289881) Katoh M. … Katoh M. (Int. J. Oncol. 2004) 2 3 4 23 67
  2. Members of a novel gene family, Gsdm, are expressed exclusively in the epithelium of the skin and gastrointestinal tract in a highly tissue-specific manner. (PMID: 17350798) Tamura M. … Shiroishi T. (Genomics 2007) 2 3
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. Distinctive expression and function of four GSDM family genes (GSDMA-D) in normal and malignant upper gastrointestinal epithelium. (PMID: 19051310) Saeki N. … Sasaki H. (Genes Chromosomes Cancer 2009) 3
  5. DNA sequence and analysis of human chromosome 8. (PMID: 16421571) Nusbaum C. … Lander E.S. (Nature 2006) 3

Products for GSDMD Gene

Sources for GSDMD Gene

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